Canonical Allele Identifier: CA447978748

Gene: MSX2

Linked Data

• MyVariant Identifiers: chr5:g.174156406G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174729403G>C , CM000667.2:g.174729403G>C	GRCh38
NC_000005.9:g.174156406G>C , CM000667.1:g.174156406G>C	GRCh37
NC_000005.8:g.174089012G>C	NCBI36
NG_008124.1:g.9832G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.624G>C MANE Select	ENSP00000239243.5:p.Leu208=
ENST00000239243.6:c.624G>C	ENSP00000239243.5:p.Leu208=
ENST00000507785.2:c.*248G>C	ENSP00000427425.1:n.*248G>C
NM_002449.4:c.624G>C	NP_002440.2:p.Leu208=
NM_001363626.1:c.*248G>C	NP_001350555.1:n.*248G>C
NM_002449.5:c.624G>C MANE Select	NP_002440.2:p.Leu208=
NM_001363626.2:c.*248G>C	NP_001350555.1:n.*248G>C